ClinVar Miner

Submissions for variant NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)

gnomAD frequency: 0.00037  dbSNP: rs145347209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361991 SCV000450175 likely benign Autosomal dominant aplasia and myelodysplasia 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.
Genetic Services Laboratory, University of Chicago RCV000504137 SCV000597263 likely benign not specified 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV001452033 SCV001655680 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001452033 SCV004152706 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SRP72: BP4

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