ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003786434 SCV004570576 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2022-11-23 criteria provided, single submitter clinical testing

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