ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)

gnomAD frequency: 0.00967  dbSNP: rs148268937
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224288 SCV000281272 benign not provided 2015-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246282 SCV000304655 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085568 SCV000629384 benign Sandhoff disease 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001085568 SCV002800225 likely benign Sandhoff disease 2021-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000224288 SCV003919462 likely benign not provided 2022-07-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000224288 SCV005302158 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001085568 SCV001452546 benign Sandhoff disease 2020-09-16 no assertion criteria provided clinical testing

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