ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val)

gnomAD frequency: 0.00320  dbSNP: rs149428057
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973065 SCV001120800 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973065 SCV005274886 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610922 SCV000734756 likely benign X-linked progressive cerebellar ataxia no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000973065 SCV001798718 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000973065 SCV001972219 likely benign not provided no assertion criteria provided clinical testing

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