ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3114C>T (p.His1038=)

gnomAD frequency: 0.00043  dbSNP: rs148918729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000365335 SCV000336717 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085683 SCV001060709 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276845 SCV001463429 uncertain significance Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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