ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.201C>T (p.Asn67=)

gnomAD frequency: 0.00156  dbSNP: rs147057169
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726430 SCV000344561 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000726430 SCV000600940 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000633685 SCV000754952 benign Biotinidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000633685 SCV001653433 likely benign Biotinidase deficiency 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726430 SCV002496790 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing BTD: BP4, BP7
Natera, Inc. RCV000633685 SCV001460178 likely benign Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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