ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)

gnomAD frequency: 0.01201  dbSNP: rs61734546
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245802 SCV000313271 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277938 SCV000432761 likely benign Bardet-Biedl syndrome 6 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000326048 SCV000432762 likely benign McKusick-Kaufman syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528510 SCV000636914 benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001561664 SCV001784304 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561664 SCV005207344 likely benign not provided criteria provided, single submitter not provided

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