ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)

gnomAD frequency: 0.00004  dbSNP: rs752466254
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 RCV000901032 SCV001045379 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279457 SCV001466552 likely benign Mucopolysaccharidosis, MPS-III-C 2020-09-22 no assertion criteria provided clinical testing

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