ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2194G>A (p.Val732Met)

gnomAD frequency: 0.00001  dbSNP: rs750304793
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 RCV003597305 SCV002336170 benign FG syndrome 2022-08-22 criteria provided, single submitter clinical testing

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