ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1626C>T (p.Ile542=)

gnomAD frequency: 0.03215  dbSNP: rs2289272
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991463 SCV001142870 benign not provided 2018-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000991463 SCV001864372 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991463 SCV002401830 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000991463 SCV005239256 benign not provided criteria provided, single submitter not provided

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