ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1171G>A (p.Val391Met)

gnomAD frequency: 0.01720  dbSNP: rs61732059
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507857 SCV000604616 benign Retinitis pigmentosa 43 2020-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000948718 SCV001094940 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001152525 SCV001313742 likely benign Retinitis pigmentosa 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). 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.
GeneDx RCV000948718 SCV001833218 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000948718 SCV005220089 likely benign not provided criteria provided, single submitter not provided

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