ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1933+27A>G

gnomAD frequency: 0.73512  dbSNP: rs874002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001687604 SCV001909166 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776285 SCV002014173 benign MEGF8-related Carpenter syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001687604 SCV005307554 benign not provided criteria provided, single submitter not provided

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