ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=)

dbSNP: rs547635717
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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 RCV000545629 SCV000652882 benign MEGF8-related Carpenter syndrome 2023-08-04 criteria provided, single submitter clinical testing

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