ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)

gnomAD frequency: 0.00010  dbSNP: rs190427962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403322 SCV000334339 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV000403322 SCV001403616 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330107 SCV001521710 uncertain significance Usher syndrome type 2C 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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