ClinVar Miner

Submissions for variant NM_032120.4(RBM48):c.27G>A (p.Gly9=)

gnomAD frequency: 0.01018  dbSNP: rs117787377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583403 SCV001812312 likely benign not provided 2018-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001583403 SCV002477255 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001583403 SCV005221051 likely benign not provided criteria provided, single submitter not provided

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