ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) (rs182393180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880835 SCV001023957 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275629 SCV001460915 likely benign Mucopolysaccharidosis, MPS-III-C 2020-06-07 no assertion criteria provided clinical testing

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