ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer)

dbSNP: rs281864992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671256 SCV000796213 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2017-12-05 criteria provided, single submitter clinical testing
GeneReviews RCV000032314 SCV000055958 not provided Mucolipidosis type II no assertion provided literature only

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