ClinVar Miner

Submissions for variant NM_016363.5(GP6):c.964A>C (p.Asn322His)

gnomAD frequency: 0.81180  dbSNP: rs1671152
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244207 SCV000306501 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001689818 SCV001914438 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701895 SCV001933892 benign Platelet-type bleeding disorder 11 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689818 SCV003340073 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689818 SCV005312854 benign not provided criteria provided, single submitter not provided

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