ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.233+7G>T

gnomAD frequency: 0.01285  dbSNP: rs9926432
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968639 SCV001116105 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000968639 SCV001805455 likely benign not provided 2019-04-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273753 SCV002045575 benign GNPTG-mucolipidosis 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968639 SCV005216902 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273753 SCV001457234 benign GNPTG-mucolipidosis 2019-09-09 no assertion criteria provided clinical testing

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