ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2101-8T>G

gnomAD frequency: 0.00061  dbSNP: rs200246286
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 RCV000639618 SCV000761197 benign Brody myopathy 2024-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715323 SCV005296079 benign not provided criteria provided, single submitter not provided

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