ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1080A>G (p.Gln360=)

gnomAD frequency: 0.00002  dbSNP: rs751316775
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422991 SCV001625557 likely benign Neuronal ceroid lipofuscinosis 7 2023-10-15 criteria provided, single submitter clinical testing

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