ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2069+9G>T

dbSNP: rs149305291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514735 SCV000610435 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083118 SCV000656875 benign Intellectual disability, autosomal recessive 53 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000514735 SCV001983100 likely benign not provided 2021-04-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514735 SCV005263584 likely benign not provided criteria provided, single submitter not provided

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