ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1455C>T (p.Asn485=)

gnomAD frequency: 0.00006  dbSNP: rs149123972
Minimum review status: Collection method:
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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 RCV001429682 SCV001632399 likely benign Glycogen storage disease, type V 2024-11-27 criteria provided, single submitter clinical testing

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