Submissions for variant NM_001283009.2(RTEL1):c.396-26C>T

gnomAD frequency: 0.00003  dbSNP: rs80224512

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522006	SCV000618367	likely pathogenic	not provided	2023-12-21	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV002497014	SCV002813895	likely pathogenic	Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	2022-01-12	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000522006	SCV003811985	likely pathogenic	not provided	2021-12-28	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000670829	SCV004209798	pathogenic	Dyskeratosis congenita, autosomal recessive 5	2023-05-12	criteria provided, single submitter	clinical testing
Counsyl	RCV000670829	SCV000795734	uncertain significance	Dyskeratosis congenita, autosomal recessive 5	2017-11-16	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001276031	SCV001461859	likely pathogenic	Dyskeratosis congenita	2020-09-16	no assertion criteria provided	clinical testing