ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.851+10C>T

dbSNP: rs778394235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001159326 SCV001321033 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001400192 SCV001601995 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001159326 SCV001460916 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-04-14 no assertion criteria provided clinical testing

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