ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.559-18_559-17del

dbSNP: rs2147448565
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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 RCV002114889 SCV002444631 likely benign MEGF8-related Carpenter syndrome 2021-04-23 criteria provided, single submitter clinical testing

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