ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)

gnomAD frequency: 0.00006  dbSNP: rs202046984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034153 SCV001197481 likely benign Niemann-Pick disease, type C1 2024-01-18 criteria provided, single submitter clinical testing
New York Genome Center RCV001256104 SCV001432891 uncertain significance Seizure; Intellectual disability 2020-05-20 criteria provided, single submitter clinical testing

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