ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.606C>T (p.Ser202=) (rs544509805)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089249 SCV001074456 likely benign Mucopolysaccharidosis, MPS-III-A 2020-10-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000676154 SCV000801905 likely benign not provided 2017-05-15 no assertion criteria provided clinical testing

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