ClinVar Miner

Submissions for variant NM_020693.4(DSCAML1):c.678C>T (p.Pro226=)

gnomAD frequency: 0.00068  dbSNP: rs143227689
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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 RCV002195167 SCV002354376 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002195167 SCV005232311 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978555 SCV004793663 likely benign DSCAML1-related disorder 2019-04-30 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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