ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) (rs113641837)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000336968 SCV000344508 benign not specified 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV000889148 SCV001032810 benign Mucopolysaccharidosis, MPS-III-A 2020-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001651323 SCV001862039 benign not provided 2020-02-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21228398, 22995991, 9285796, 25807448, 24816101)
Nilou-Genome Lab RCV000889148 SCV002045518 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000889148 SCV001453820 benign Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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