ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1284+17A>T

gnomAD frequency: 0.00001  dbSNP: rs1250751516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003077310 SCV003461423 likely benign RASopathy 2024-06-13 criteria provided, single submitter clinical testing

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