ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.676+9C>T

gnomAD frequency: 0.00063  dbSNP: rs202246872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003101324 SCV003272366 benign not provided 2023-11-07 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245415 SCV002515658 uncertain significance Platelet-type bleeding disorder 15 no assertion criteria provided research

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