ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1062C>T (p.Ala354=)

gnomAD frequency: 0.00010  dbSNP: rs150750383
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000935868 SCV001081622 likely benign Mucopolysaccharidosis, MPS-III-A 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000935868 SCV002095123 likely benign Mucopolysaccharidosis, MPS-III-A 2020-02-26 no assertion criteria provided clinical testing

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