ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1989C>T (p.Phe663=)

gnomAD frequency: 0.34149  dbSNP: rs7946841
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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 RCV001514475 SCV001722324 benign Dystonic disorder 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692404 SCV001915312 benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260159 SCV002539169 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692404 SCV005317898 benign not provided criteria provided, single submitter not provided

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