ClinVar Miner

Submissions for variant NM_001083926.2(ASRGL1):c.753G>A (p.Ser251=)

dbSNP: rs149188142
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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 RCV001518443 SCV001727138 benign not provided 2025-01-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518443 SCV005317450 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931108 SCV004741881 likely benign ASRGL1-related disorder 2019-06-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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