ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3200G>A (p.Arg1067Gln)

gnomAD frequency: 0.00674  dbSNP: rs115395682
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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 RCV000967047 SCV001114417 benign not provided 2018-06-05 criteria provided, single submitter clinical testing

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