ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.538-25T>C

gnomAD frequency: 0.00963  dbSNP: rs149014464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249114 SCV000309124 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000675444 SCV001836223 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675444 SCV005210613 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675444 SCV000801125 likely benign not provided 2015-12-15 no assertion criteria provided clinical testing

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