ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.4276C>T (p.His1426Tyr)

gnomAD frequency: 0.00002  dbSNP: rs1316867457
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339983 SCV001533768 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing

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