ClinVar Miner

Submissions for variant NM_005105.5(RBM8A):c.68-6T>C

gnomAD frequency: 0.00607  dbSNP: rs112273321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952080 SCV001098548 benign Radial aplasia-thrombocytopenia syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001593145 SCV001814982 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000952080 SCV002813203 likely benign Radial aplasia-thrombocytopenia syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001593145 SCV005261591 likely benign not provided criteria provided, single submitter not provided

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