ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.57+4A>G (rs1057519229)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416076 SCV000493649 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000671661 SCV000796656 uncertain significance Niemann-Pick disease type C1 2017-12-21 criteria provided, single submitter clinical testing
Mendelics RCV000671661 SCV001140865 likely pathogenic Niemann-Pick disease type C1 2019-05-28 criteria provided, single submitter clinical testing

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