ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.1401G>A (p.Ala467=)

gnomAD frequency: 0.00051  dbSNP: rs144935155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964102 SCV001111287 benign not provided 2024-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964102 SCV004128305 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing RERE: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000964102 SCV005285272 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916145 SCV004735855 likely benign RERE-related disorder 2019-05-07 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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