ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4566T>C (p.Asp1522=)

gnomAD frequency: 0.00002  dbSNP: rs1243939574
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003776560 SCV002936856 benign FG syndrome 2024-09-11 criteria provided, single submitter clinical testing

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