ClinVar Miner

Submissions for variant NM_016363.5(GP6):c.745G>A (p.Ala249Thr)

gnomAD frequency: 0.73790  dbSNP: rs2304167
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251969 SCV000306497 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683008 SCV001904513 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701811 SCV001933895 benign Platelet-type bleeding disorder 11 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683008 SCV003201507 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683008 SCV005312859 benign not provided criteria provided, single submitter not provided

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