ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2040T>C (p.His680=)

gnomAD frequency: 0.00001  dbSNP: rs765451882
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175151 SCV000226587 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175151 SCV001071058 likely benign not provided 2024-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998371 SCV005621108 benign not specified 2024-01-16 criteria provided, single submitter clinical testing

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