ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2778C>T (p.Ile926=)

gnomAD frequency: 0.00001  dbSNP: rs375971110
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 RCV003596183 SCV003452579 benign FG syndrome 2024-11-09 criteria provided, single submitter clinical testing

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