ClinVar Miner

Submissions for variant NM_018043.7(ANO1):c.2916C>T (p.Leu972=)

gnomAD frequency: 0.00314  dbSNP: rs61731870
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964425 SCV001111631 benign not provided 2018-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964425 SCV005093685 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing ANO1: BP4, BP7, BS2

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