ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)

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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 RCV002628929 SCV003515916 likely benign MEGF8-related Carpenter syndrome 2022-10-13 criteria provided, single submitter clinical testing

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