ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.666C>T (p.Ile222=)

gnomAD frequency: 0.00009  dbSNP: rs546559661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494241 SCV001698893 likely benign Brody myopathy 2020-06-27 criteria provided, single submitter clinical testing

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