ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)

gnomAD frequency: 0.00002  dbSNP: rs199860580
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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
Ambry Genetics RCV000617840 SCV000739150 uncertain significance Cardiovascular phenotype 2016-09-12 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV003762839 SCV001720051 benign FG syndrome 2023-09-05 criteria provided, single submitter clinical testing

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