ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.276G>T (p.Leu92=)

dbSNP: rs1593529954
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480520 SCV001684839 likely benign MHC class II deficiency 2023-06-30 criteria provided, single submitter clinical testing

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