ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)

gnomAD frequency: 0.00661  dbSNP: rs34372414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000903562 SCV000719188 benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903562 SCV001048034 benign not provided 2023-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487437 SCV002798176 likely benign Jawad syndrome; Seckel syndrome 2 2022-04-05 criteria provided, single submitter clinical testing

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