ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.3336C>T (p.Asp1112=)

gnomAD frequency: 0.00141  dbSNP: rs56272522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002194699 SCV002355451 benign not provided 2024-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002194699 SCV003916407 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ATP2B2: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV002194699 SCV005239235 benign not provided criteria provided, single submitter not provided

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