ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.771+5G>C

dbSNP: rs727503959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179319 SCV000231551 likely pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329340 SCV001520758 uncertain significance Sandhoff disease 2020-06-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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