ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.359G>T (p.Gly120Val)

dbSNP: rs199978715
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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 RCV001419791 SCV001622054 likely benign MHC class II deficiency 2023-12-18 criteria provided, single submitter clinical testing

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