ClinVar Miner

Submissions for variant NM_032888.4(COL27A1):c.3951G>A (p.Val1317=)

gnomAD frequency: 0.00001  dbSNP: rs758174752
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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 RCV001503335 SCV001708189 likely benign not provided 2024-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931032 SCV004738531 benign COL27A1-related disorder 2019-09-09 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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