ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) (rs1563366828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928868 SCV001074489 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Invitae RCV001456484 SCV001660267 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-06-30 criteria provided, single submitter clinical testing

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