ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.720+9C>T

gnomAD frequency: 0.00006  dbSNP: rs370687707
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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 RCV000226856 SCV000288968 likely benign RASopathy 2023-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967649 SCV004787616 likely benign SOS1-related disorder 2021-08-11 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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