ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) (rs1553356023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000596268 SCV000709740 uncertain significance not specified 2018-03-01 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: not present in GnomAD-2:39249842 C / A-good coverage; Not in ClinVar, Google search or HGMD; predicted benign by polyphen
Mendelics RCV000986621 SCV001135663 uncertain significance Noonan syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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