ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2520T>C (p.Ala840=)

gnomAD frequency: 0.00001  dbSNP: rs758654390
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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 RCV002171087 SCV002429190 likely benign Intellectual disability, autosomal recessive 53 2022-08-22 criteria provided, single submitter clinical testing

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