ClinVar Miner

Submissions for variant NM_015331.3(NCSTN):c.437-12C>G

gnomAD frequency: 0.00019  dbSNP: rs201416838
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002137619 SCV002412711 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494311 SCV002804239 likely benign Acne inversa, familial, 1 2022-04-27 criteria provided, single submitter clinical testing

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