ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe)

dbSNP: rs1553479775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538090 SCV000655234 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736813 SCV004562359 benign not provided 2023-11-29 criteria provided, single submitter clinical testing

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