ClinVar Miner

Submissions for variant NM_013322.3(SNX10):c.212+4A>T

gnomAD frequency: 0.00044  dbSNP: rs183941048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910101 SCV001054944 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479046 SCV002803518 likely benign Autosomal recessive osteopetrosis 8 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932969 SCV004756759 benign SNX10-related disorder 2020-04-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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