Submissions for variant NM_024675.4(PALB2):c.-10C>T

gnomAD frequency: 0.00006  dbSNP: rs1038099508

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000583508	SCV000690755	likely benign	Hereditary cancer-predisposing syndrome	2017-07-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001712601	SCV001945537	benign	not provided	2015-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000583508	SCV004849183	uncertain significance	Hereditary cancer-predisposing syndrome	2016-03-15	criteria provided, single submitter	clinical testing	The c.-10C>T alteration is located in the 5' untranslated region (5'UTR) of the PALB2 gene. This alteration consists of a C to T substitution nucleotides upstream from the first translated codon. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV001712601	SCV005213530	likely benign	not provided		criteria provided, single submitter	not provided
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001712601	SCV005623168	uncertain significance	not provided	2024-08-02	criteria provided, single submitter	clinical testing	The PALB2 c.-10C>T variant has not been reported in individuals with PALB2-related conditions in the published literature. The frequency of this variant in the general population, 0.00013 (3/23874 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005357758	SCV005917268	likely benign	PALB2-related cancer predisposition	2023-09-05	criteria provided, single submitter	clinical testing