ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.63-4del

dbSNP: rs755011754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724168 SCV000229265 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000724168 SCV000565129 likely benign not provided 2023-08-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV001082199 SCV000762065 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271148 SCV001452003 likely benign Late-infantile neuronal ceroid lipofuscinosis 2020-09-16 no assertion criteria provided clinical testing

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