ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.2031+8A>G

gnomAD frequency: 0.00012  dbSNP: rs201679870
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001510233 SCV001717219 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501751 SCV002807737 benign Bone marrow failure syndrome 4 2021-12-01 criteria provided, single submitter clinical testing

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