ClinVar Miner

Submissions for variant NM_001042750.2(STAG2):c.45-11T>C

gnomAD frequency: 0.00106  dbSNP: rs183562950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191339 SCV002488781 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486994 SCV002803448 likely benign Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked 2021-11-15 criteria provided, single submitter clinical testing

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