ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn)

dbSNP: rs142908255
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891173 SCV001034968 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163253 SCV001325273 likely benign Congenital secretory diarrhea, chloride type 2017-04-27 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.
GeneDx RCV000891173 SCV001764546 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891173 SCV005228511 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975629 SCV004789103 likely benign SLC26A3-related disorder 2020-10-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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